Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

Ulrich Finckh, A. Alberici, M. Antoniazzi, L. Benussi, V. Fedi, C. Giannini, A. Gal, R. M. Nitsch, G. Binetti

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Abstract

In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine- to-isoleucine change at PS2 residue 239 (M239I), at which a change to valine was known in another family. Phenotypic expression of M2391 was highly variable, with disease onset between age 44 and 58 years, and two nonaffected mutation carriers at age 58 and 68 years. The data showed no influence of APOE but were compatible with other possible genetic modifiers of the phenotype or penetrance of M239I.

Original languageEnglish (US)
Pages (from-to)2006-2008
Number of pages3
JournalNeurology
Volume54
Issue number10
DOIs
StatePublished - May 23 2000

Keywords

  • Alzheimer disease
  • M239I
  • Mutation
  • PS2
  • PSEN2
  • Phenotype variability
  • Presenilin 2

ASJC Scopus subject areas

  • Clinical Neurology

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